| Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia NA Bolar, C Golzio, M Živná, G Hayot, C Van Hemelrijk, D Schepers, ... The American Journal of Human Genetics 99 (1), 174-187, 2016 | 167 | 2016 |
| Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 E Olinger, P Hofmann, K Kidd, I Dufour, H Belge, C Schaeffer, A Kipp, ... Kidney international 98 (3), 717-731, 2020 | 93 | 2020 |
| Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 AJ Bleyer, S Kmoch, C Antignac, V Robins, K Kidd, JR Kelsoe, G Hladik, ... Clinical Journal of the American Society of Nephrology 9 (3), 527-535, 2014 | 89 | 2014 |
| Autosomal dominant tubulointerstitial kidney disease AJ Bleyer, K Kidd, M Živná, S Kmoch Advances in chronic kidney disease 24 (2), 86-93, 2017 | 85 | 2017 |
| Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6 H Hartmannová, L Piherová, K Tauchmannová, K Kidd, PD Acott, ... Human Molecular Genetics 25 (18), 4062-4079, 2016 | 69 | 2016 |
| Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease M Živná, K Kidd, A Přistoupilová, V Barešová, M DeFelice, B Blumenstiel, ... Journal of the American Society of Nephrology 29 (9), 2418-2431, 2018 | 57 | 2018 |
| A randomized trial of vonapanitase (PATENCY-1) to promote radiocephalic fistula patency and use for hemodialysis AJ Bleyer, VA Scavo, SE Wilson, BJ Browne, BL Ferris, CK Ozaki, T Lee, ... Journal of vascular surgery 69 (2), 507-515, 2019 | 45 | 2019 |
| Elevated urinary CRELD2 is associated with endoplasmic reticulum stress–mediated kidney disease Y Kim, SJ Park, SR Manson, CAF Molina, K Kidd, H Thiessen-Philbrook, ... JCI insight 2 (23), 2017 | 42 | 2017 |
| Development and validation of a mass spectrometry–based assay for the molecular diagnosis of mucin-1 kidney disease B Blumenstiel, M DeFelice, O Birsoy, AJ Bleyer, S Kmoch, TA Carter, ... The Journal of Molecular Diagnostics 18 (4), 566-571, 2016 | 38 | 2016 |
| An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes M Živná, K Kidd, M Zaidan, P Vyleťal, V Barešová, K Hodaňová, J Sovová, ... Kidney international 98 (6), 1589-1604, 2020 | 37 | 2020 |
| Genetic and clinical predictors of age of ESKD in individuals with autosomal dominant tubulointerstitial kidney disease due to UMOD mutations K Kidd, P Vylet’al, C Schaeffer, E Olinger, M Živná, K Hodaňová, V Robins, ... Kidney international reports 5 (9), 1472-1485, 2020 | 37 | 2020 |
| Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland S Cormican, DM Connaughton, C Kennedy, S Murray, M Živná, S Kmoch, ... Renal failure 41 (1), 832-841, 2019 | 28 | 2019 |
| Utility of genomic testing after renal biopsy SL Murray, A Dorman, KA Benson, DM Connaughton, CP Stapleton, ... American journal of nephrology 51 (1), 43-53, 2020 | 24 | 2020 |
| An intermediate-effect size variant in UMOD confers risk for chronic kidney disease E Olinger, C Schaeffer, K Kidd, EAE Elhassan, Y Cheng, I Dufour, ... Proceedings of the National Academy of Sciences 119 (33), e2114734119, 2022 | 23 | 2022 |
| The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project EAE Elhassan, SL Murray, DM Connaughton, C Kennedy, S Cormican, ... Journal of Nephrology 35 (6), 1655-1665, 2022 | 19 | 2022 |
| Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β AJ Bleyer, MT Wolf, KO Kidd, M Zivna, S Kmoch Pediatric Nephrology, 1-14, 2022 | 18 | 2022 |
| Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases AJ Bleyer, K Kidd, V Robins, L Martin, A Taylor, A Santi, G Tsoumas, ... Genetics in Medicine 22 (1), 142-149, 2020 | 16 | 2020 |
| Plasma mucin-1 (CA15-3) levels in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations P Vylet’al, K Kidd, HC Ainsworth, D Springer, A Vrbacká, A Přistoupilová, ... American Journal of Nephrology 52 (5), 378-387, 2021 | 11 | 2021 |
| Autosomal dominant tubulointerstitial kidney disease: A review M Živná, KO Kidd, V Barešová, H Hůlková, S Kmoch, AJ Bleyer Sr American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 10 | 2022 |
| Quality of life in patients with autosomal dominant tubulointerstitial kidney disease AJ Bleyer, K Kidd, E Johnson, V Robins, L Martin, A Taylor, AJ Pinder, ... Clinical nephrology 92 (6), 302, 2019 | 9 | 2019 |
